Variant (rsID / SNP)

rs143677057

rs143677057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYF6. Location: chromosome 12, position 81,102,342. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYF6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:81102342
Cytoband: 12q21.31
HGVS: NM_002469.3(MYF6):c.559T>A (p.Trp187Arg)
Allele change: Missense_W187R

Associated conditions / phenotypes

Myopathy, centronuclear, 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.